Table 5 Panel sequencing results
From: Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient
Gene name | Chromosome | Position | ID | Reference | Alternative | Mutation type | AA change | Transcript_ID | frequency in gnomAD | Depth | SIFTcat | PolyPhenCat | CADD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Homozygous variants from PID and HM Panel | |||||||||||||
G6PC3 | 17 | 42152722 | CG | C | Frame shift | R194 | ENST00000269097 | 163 | NA | NA | 32 | ||
Heterozygous variants from PID and HM panel | |||||||||||||
PIEZO1 | 16 | 88782507 | C | T | Missense | G2384S | ENST00000301015 | 0.00003269 (5 het) | 203 | Tolerated | Benign | 13.9 | |
HK1 | 10 | 71075748 | rs374788115 | G | A | Missense | G13D | ENST00000298649 | 0.00002852 (8 het) | 115 | NA | NA | 11.54 |
FCGR3A | 1 | 161518448 | C | G | Missense | V64L | ENST00000367969 | NA | 83 | Tolerated | Probably_damaging | 22.5 | |
EDAR | 2 | 109529140 | G | A | Missense | H175Y | ENST00000376651 | NA | 84 | Tolerated | Benign | 16.24 | |
PIEZO1 | 16 | 88804732 | C | T | Missense | A251T | ENST00000301015 | 0.00002828 (4 het) | 183 | Tolerated | Benign | 10.37 | |